Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

abstract：:Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from...

journal_title：Human mutation

authors： Callewaert BL,Loeys BL,Ficcadenti A,Vermeer S,Landgren M,Kroes HY,Yaron Y,Pope M,Foulds N,Boute O,Galán F,Kingston H,Van der Aa N,Salcedo I,Swinkels ME,Wallgren-Pettersson C,Gabrielli O,De Backer J,Coucke PJ,De Paep

更新日期：2009-03-01 00:00:00

abstract：:Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern area of Spain (Valencian Community). We have screened the ...

journal_title：Human mutation

authors： García-García AB,Real JT,Puig O,Cebolla E,Marín-García P,Martínez Ferrandis JI,García-Sogo M,Civera M,Ascaso JF,Carmena R,Armengod ME,Chaves FJ

更新日期：2001-11-01 00:00:00

abstract：:The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a st...

journal_title：Human mutation

authors： Brookes AJ,Chanock SJ,Hudson TJ,Peltonen L,Abecasis G,Kwok PY,Scherer SW

更新日期：2009-07-01 00:00:00

abstract：:We have established the experimental conditions to screen twenty regions of the dystrophin gene using the method of single-strand conformational polymorphism (SSCP) analysis. The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA ...

journal_title：Human mutation

authors： Tuffery S,Moine P,Demaille J,Claustres M

更新日期：1993-01-01 00:00:00

abstract：:Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered disease genes. By per...

journal_title：Human mutation

authors： Capuano A,Bucciotti F,Farwell KD,Tippin Davis B,Mroske C,Hulick PJ,Weissman SM,Gao Q,Spessotto P,Colombatti A,Doliana R

更新日期：2016-01-01 00:00:00

abstract：:The Marfan (MFS) and Loeys-Dietz (LDS) syndromes are caused by mutations in the fibrillin-1 (FBN1) and Transforming Growth Factor Beta Receptor 1 and 2 (TGFBR1 and TGFBR2) genes, respectively. With the current conventional mutation screening technologies, analysis of this set of genes is time consuming and expensive. ...

journal_title：Human mutation

authors： Baetens M,Van Laer L,De Leeneer K,Hellemans J,De Schrijver J,Van De Voorde H,Renard M,Dietz H,Lacro RV,Menten B,Van Criekinge W,De Backer J,De Paepe A,Loeys B,Coucke PJ

更新日期：2011-09-01 00:00:00

abstract：:Mutation detection based on ribonuclease cleavage of basepair mismatches in single-stranded RNA probes hybridized to DNA targets was first described over 15 years ago. The original methods relied on RNase A for mismatch cleavage; however, this enzyme fails to cleave many mismatches and has other drawbacks. More recent...

journal_title：Human mutation

authors： Goldrick MM

更新日期：2001-09-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00

abstract：:Specific NRAS oncogene missense mutations have been frequently found in some tumors and several hematological diseases, especially in those of myeloid origin. There is a wide range of PCR-based methods for screening and detection of NRAS exon 1 single-base substitutions. However, there are disadvantages and ambiguitie...

journal_title：Human mutation

authors： Belli C,De Brasi C,Larripa I

更新日期：2003-02-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a vascular dysplasia caused by mutations in the endoglin (ENG) gene and associated with epistaxis, telangiectases, and a high incidence of pulmonary arteriovenous malformations. To efficiently detect deletions and insertions, we optimized a quantitative multiplex ...

journal_title：Human mutation

authors： Cymerman U,Vera S,Karabegovic A,Abdalla S,Letarte M

更新日期：2003-05-01 00:00:00

abstract：:Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencin...

journal_title：Human mutation

authors： Sikkema-Raddatz B,Johansson LF,de Boer EN,Almomani R,Boven LG,van den Berg MP,van Spaendonck-Zwarts KY,van Tintelen JP,Sijmons RH,Jongbloed JD,Sinke RJ

更新日期：2013-07-01 00:00:00

abstract：:This review summarizes the data on 278 different mutations found to date in the genes for types I, II, III, IX, X, and XI collagens from 317 apparently unrelated patients. A majority (217 mutations; 78% of the total) of the mutations are single-base and either change the codon of a critical amino acid (63%), or lead t...

journal_title：Human mutation

authors： Kuivaniemi H,Tromp G,Prockop DJ

更新日期：1997-01-01 00:00:00

abstract：:Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been reported in a total gro...

journal_title：Human mutation

authors： Miltenberger-Miltenyi G,Laccone F

更新日期：2003-08-01 00:00:00

abstract：:Influenza-associated encephalopathy (IAE) is characterized by persistent high fever, febrile convulsions, severe brain edema, and high mortality in otherwise apparently healthy individuals. We have reported that a large proportion of patients suffering from disabling or fatal IAE, with transiently elevated serum acylc...

journal_title：Human mutation

authors： Yao D,Mizuguchi H,Yamaguchi M,Yamada H,Chida J,Shikata K,Kido H

更新日期：2008-05-01 00:00:00

abstract：:Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine differ...

journal_title：Human mutation

authors： Eng CM,Desnick RJ

更新日期：1994-01-01 00:00:00

abstract：:MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes. Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and musc...

journal_title：Human mutation

authors： Utami KH,Winata CL,Hillmer AM,Aksoy I,Long HT,Liany H,Chew EG,Mathavan S,Tay SK,Korzh V,Sarda P,Davila S,Cacheux V

更新日期：2014-11-01 00:00:00

abstract：:Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mu...

journal_title：Human mutation

authors： de Meeus A,Guittard C,Desgeorges M,Carles S,Demaille J,Claustres M

更新日期：1998-01-01 00:00:00

abstract：:The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β...

journal_title：Human mutation

authors： Schepers D,Tortora G,Morisaki H,MacCarrick G,Lindsay M,Liang D,Mehta SG,Hague J,Verhagen J,van de Laar I,Wessels M,Detisch Y,van Haelst M,Baas A,Lichtenbelt K,Braun K,van der Linde D,Roos-Hesselink J,McGillivray G,M

更新日期：2018-05-01 00:00:00

abstract：:Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in th...

journal_title：Human mutation

authors： Kohlhase J,Chitayat D,Kotzot D,Ceylaner S,Froster UG,Fuchs S,Montgomery T,Rösler B

更新日期：2005-09-01 00:00:00

abstract：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 00:00:00

abstract：:X-linked myotubular myopathy (MTM1) is a rare developmental disorder of skeletal muscle that is characterized by the presence of abnormal central nuclei in biopsy specimens taken from affected individuals. To date 133 different mutations have been identified in the MTM1 gene worldwide. We report here mutations detecte...

journal_title：Human mutation

authors： Herman GE,Kopacz K,Zhao W,Mills PL,Metzenberg A,Das S

更新日期：2002-02-01 00:00:00

abstract：:We describe a rapid and simple method for phenylketonuria genotyping which identifies five point mutations within exon 12 of the human phenylalanine hydroxylase gene. The method involves PCR amplification of the target exon and hybridization with a PCR-amplifiable synthetic DNA (universal heteroduplex generator, UHG)....

journal_title：Human mutation

authors： Wood N,Tyfield L,Bidwell J

更新日期：1993-01-01 00:00:00

abstract：:The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene. Approximately 50-60 mutations have been reported in Caucasians and are reflected in a wide range of clinical severities. Most mutations are linked to specific ha...

journal_title：Human mutation

authors： Svensson E,Eisensmith RC,Dworniczak B,von Döbeln U,Hagenfeldt L,Horst J,Woo SL

更新日期：1992-01-01 00:00:00

abstract：:Whole-exome sequencing and whole-genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein, we argue that this optimism is presently still unfounded. While ...

journal_title：Human mutation

authors： Beckmann JS

更新日期：2015-03-01 00:00:00

abstract：:Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of ...

journal_title：Human mutation

authors： Lissens W,De Meirleir L,Seneca S,Benelli C,Marsac C,Poll-The BT,Briones P,Ruitenbeek W,van Diggelen O,Chaigne D,Ramaekers V,Liebaers I

更新日期：1996-01-01 00:00:00

abstract：:The detection of mutations in large and complex genes represents a practical challenge in research and diagnostic laboratories. Available methods are either time-consuming or lack sensitivity. Mutation detection in the factor VIII gene, responsible for haemophilia A, is hampered by its large size, its many exons, and ...

journal_title：Human mutation

authors： Freson K,Peerlinck K,Aguirre T,Arnout J,Vermylen J,Cassiman JJ,Matthijs G

更新日期：1998-01-01 00:00:00

abstract：:Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequence and an essential ...

journal_title：Human mutation

authors： More H,Humar B,Weber W,Ward R,Christian A,Lintott C,Graziano F,Ruzzo AM,Acosta E,Boman B,Harlan M,Ferreira P,Seruca R,Suriano G,Guilford P

更新日期：2007-02-01 00:00:00

abstract：:Recent advances in high-throughput genotyping and phenotyping have accelerated the creation of pharmacogenomic data. Consequently, the community requires standard formats to exchange large amounts of diverse information. To facilitate the transfer of pharmacogenomics data between databases and analysis packages, we ha...

journal_title：Human mutation

authors： Whirl-Carrillo M,Woon M,Thorn CF,Klein TE,Altman RB

更新日期：2008-02-01 00:00:00

abstract：:The need for detection of minority mutations (i.e., a few mutants within a high excess of wild-type alleles) arises frequently in the field of cancer and molecular genetics. Current mutation detection technologies are limited by several technical factors when it comes to the detection of minority point mutations, incl...

journal_title：Human mutation

authors： Mike Makrigiorgos G

更新日期：2004-05-01 00:00:00

abstract：:Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribute to FH deficiency when occurring ...

journal_title：Human mutation

authors： Zhang L,Walsh MF,Jairam S,Mandelker D,Zhong Y,Kemel Y,Chen YB,Musheyev D,Zehir A,Jayakumaran G,Brzostowski E,Birsoy O,Yang C,Li Y,Somar J,DeLair D,Pradhan N,Berger MF,Cadoo K,Carlo MI,Robson ME,Stadler ZK,Iaco

更新日期：2020-01-01 00:00:00